A curated catalogue of human genomic structural variation




Variant Details

Variant: esv17796



Internal ID11035030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:23135613..23136324hg38UCSC Ensembl
Innerchr18:20715577..20716288hg19UCSC Ensembl
Innerchr18:18969575..18970286hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38712
hg19712
hg18712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv27368
Supporting Variantsessv83941, essv45049
SamplesNA19190, NA12489
Known GenesCABLES1
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv17796
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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